JIMD Podcasts
By Journal of Inherited Metabolic Disease
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Episodes: 162
Description
A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.
| Episode | Date |
|---|---|
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Aicardi-Goutières syndrome
|
Apr 26, 2024 |
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Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital
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Apr 19, 2024 |
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Pregnancy in Urea Cycle Disorders
|
Apr 12, 2024 |
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Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs
|
Apr 05, 2024 |
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Liver directed gene therapy
|
Mar 28, 2024 |
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Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD
|
Mar 22, 2024 |
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BH4 in tyrosine hydroxylase deficiency
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Mar 15, 2024 |
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Shortcast: Lysinuric protein intolerance exhibiting RTA/Fanconi syndrome in a Japanese woman
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Mar 08, 2024 |
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How to proceed after a "negative" exome
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Feb 29, 2024 |
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Shortcast: Neuropsychological stability in classical galactosemia: A pilot study in 10 adults
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Feb 23, 2024 |
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Food or medicine? Nutritional therapies in IMD
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Feb 16, 2024 |
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Metabolic mysteries: Three children with neurological symptoms and coagulopathy
|
Feb 09, 2024 |
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Movement disorders and mRNA therapy in Arginosuccinic aciduria
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Feb 02, 2024 |
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Metabolic mysteries: Recurrent miscarriage and congenital anomalies
|
Jan 26, 2024 |
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Hepatic presentations in mitochondrial depletion syndromes
|
Jan 19, 2024 |
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Shortcast: Lysosomal storage disorders identified in adult population from India
|
Jan 12, 2024 |
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Genomic newborn screening: are we entering a new era of screening?
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Jan 05, 2024 |
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Shortcast: A case of hyperlysinemia identified by urine newborn screening
|
Dec 29, 2023 |
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JIMD Editor's Roundtable (2023)
|
Dec 22, 2023 |
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Shortcast: Relationship between plasma & capillary blood Phe using volumetric collection devices
|
Dec 15, 2023 |
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Deciphering pathogenicity with CRISPR/Cas9
|
Dec 08, 2023 |
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Shortcast: Grip strength in patients with galactosemia and in a GALT-null rat model
|
Dec 01, 2023 |
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Gene therapy in Glycogen Storage Disorders
|
Nov 24, 2023 |
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Shortcast: Screening data for 19 patients with late-onset Pompe disease for a phase I clinical trial
|
Nov 17, 2023 |
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CAD deficiency: Beyond the genetics
|
Nov 10, 2023 |
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Shortcast: Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
|
Nov 07, 2023 |
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Shortcast: PIGO-CDG: A case study, phenotypic expansion, lit review, and nosological considerations
|
Nov 03, 2023 |
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Comorbidity in acute porphyria
|
Oct 27, 2023 |
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Metabolic mysteries: Post-partum ataxia and confusion
|
Oct 23, 2023 |
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Shortcast: A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD
|
Oct 19, 2023 |
|
An oral enzyme therapy for MSUD
|
Oct 13, 2023 |
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Shortcast: Comparison of subcutaneous and intravenous moss-aGal in Fabry disease mouse model
|
Oct 09, 2023 |
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Metabolic mysteries: A child with dystonia and MRI changes
|
Oct 05, 2023 |
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Fetal gene therapy
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Sep 29, 2023 |
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Shortcast: Interstitial lung disease and pancreatic exocrine insufficiency in CADDS
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Sep 23, 2023 |
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SSIEM 2022 special episode
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Sep 15, 2023 |
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Gene therapy in urea cycle disorders: a historical perspective and future prospects
|
Sep 01, 2023 |
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Possible substrate reduction therapy in disorders of valine and isoleucine metabolism
|
Aug 18, 2023 |
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Shortcast: Prolonged respiratory failure treatment in isolated homocysteine remethylation defects
|
Aug 11, 2023 |
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A clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
|
Aug 04, 2023 |
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Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
|
Jul 28, 2023 |
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Pregnancy in acute porphyria
|
Jul 21, 2023 |
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Gene therapies in mucopolysaccharidoses
|
Jul 07, 2023 |
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Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant
|
Jun 30, 2023 |
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Racial diversity and the S135L variant in galactosemia
|
Jun 23, 2023 |
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Shortcast: Increased prevalence of Parkinson's disease in alkaptonuria
|
Jun 19, 2023 |
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Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene
|
Jun 14, 2023 |
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Gene therapy in a mouse model of MSUD
|
Jun 09, 2023 |
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Key terms and definitions In porphyria
|
May 26, 2023 |
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PGM1-CDG: isoforms, phenotyping and gene therapy
|
May 12, 2023 |
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A novel UHPLC/HRAM MS approach in LSD screening
|
Apr 28, 2023 |
|
Shortcast: Early treatment of neonatal diabetes with oral glibenclamide in extreme prematurity
|
Apr 21, 2023 |
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Cholestasis, oxysterols and clinical conundrums
|
Apr 14, 2023 |
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Shortcast: The remarkable journey of one female individual with OTC deficiency diagnosed post-mortem
|
Apr 04, 2023 |
|
Fractionated plasma N-glycan profiling and ATP6AP1 - CDG
|
Mar 31, 2023 |
|
Shortcast: Autonomic instability, arrhythmia & visual impairment in MTFMT related mito disease
|
Mar 29, 2023 |
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B vitamins, drosophila and TANGO2-deficiency disorder
|
Mar 17, 2023 |
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Shortcast: Paracetamol toxicity in classic HCU: Effect of N-acetylcysteine on total homocysteine
|
Mar 16, 2023 |
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The complex machinery of cobalamin
|
Mar 03, 2023 |
|
Shortcast: MOGS-CDG: Quantitative analysis of a diagnostic biomarker & phenotype of 6 new cases
|
Feb 28, 2023 |
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How guidelines drive research and research influences guidelines
|
Feb 17, 2023 |
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Shortcast: Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency
|
Feb 10, 2023 |
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Shortcast: First decade anniversary of the United Kingdom National Alkaptonuria Centre
|
Feb 07, 2023 |
|
Cellular Insights and Computational Modelling In MMA
|
Feb 03, 2023 |
|
Novel therapy in a propionic acidemia mouse model
|
Jan 20, 2023 |
|
Shortcast: Compound heterozygous variants in 2 sialyltransferase ST3GAL5 motifs cause GM3SD
|
Jan 17, 2023 |
|
Shortcast: 3-Methylglutaconyl-CoA hydratase deficiency: Ascertainment bias vs biochemical diagnosis
|
Jan 12, 2023 |
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Priority Setting Partnership in Mitochondrial Disease
|
Jan 06, 2023 |
|
Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities and correction with pyridoxine & Folinic acid
|
Dec 28, 2022 |
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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: 3rd revision
|
Dec 23, 2022 |
|
Diagnostics, EXPLORE B and POWER in Porphyria
|
Dec 09, 2022 |
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Shortcast: Isolated neurological presentations of mevalonate kinase deficiency
|
Nov 29, 2022 |
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Novel CSF biomarkers in GLUT1 deficiency syndrome
|
Nov 25, 2022 |
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Shortcast: Management of pregnancy in a patient with LCHADD
|
Nov 21, 2022 |
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Shortcast: Infantile-onset Pompe disease with neutropenia
|
Nov 14, 2022 |
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Sex Specific Screening in X-linked Adrenoleucodystrophy
|
Nov 11, 2022 |
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Shortcast: Direct replacement of oral benzoate with glycerol phenylbutyrate in children with UCD
|
Nov 08, 2022 |
|
Everyone's talking about empagliflozin
|
Oct 28, 2022 |
|
Shortcast: GA 1: Diagnosis, clinical features & long-term outcome in a cohort of 34 Irish patients
|
Oct 21, 2022 |
|
Shortcast: Use of Elamipretide in patients assigned treatment in the compassionate use program
|
Oct 18, 2022 |
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Genomic Therapies In IMD: Lessons from MMA
|
Oct 14, 2022 |
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Shortcast: Transcriptomic study in explanted liver from a patient with acute intermittent porphyria
|
Oct 12, 2022 |
|
Shortcast: Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III
|
Oct 10, 2022 |
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Moving towards management guidelines in ALG8 - CDG
|
Sep 30, 2022 |
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Shortcast: Alternative sources of valine and isoleucine for prompt leucine reduction in MSUD
|
Sep 27, 2022 |
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Shortcast: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria
|
Sep 23, 2022 |
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Eye movement disorders in Inherited Metabolic Disease
|
Sep 16, 2022 |
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Shortcast: The prevalence of inherited metabolic disorders in the Estonian population over 30 years
|
Sep 15, 2022 |
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Shortcast: Respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
|
Sep 08, 2022 |
|
The doxycycline paradox in mitochondrial disease
|
Sep 02, 2022 |
|
Training in Adult Metabolic Medicine
|
Aug 26, 2022 |
|
Shortcast: A cross-sectional natural history study of aspartylglucosaminuria
|
Aug 22, 2022 |
|
Diagnosis and Discovery: Insights from the Undiagnosed Diseases Program
|
Aug 19, 2022 |
|
Future Therapies in Galactosaemia
|
Aug 12, 2022 |
|
Mitochondrial Trifunctional Protein Deficiency
|
Aug 05, 2022 |
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Reproductive Genetic Carrier Screening in IMD
|
Jul 29, 2022 |
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Glitazones in X-linked adrenoleukodystrophy
|
Jul 22, 2022 |
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Betaine in early onset MTHFR Deficiency
|
Jul 15, 2022 |
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Shortcast: Clinical spectrum of early onset “Mediterranean” MNGIE
|
Jul 13, 2022 |
|
Gls2 knockdown - a different approach for Urea Cycle Disorders?
|
Jul 01, 2022 |
|
Shortcast: Glycogen storage disease type IIIa in pregnant women
|
Jun 21, 2022 |
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Lost in translation — Challenges in drug development for rare disease
|
Jun 17, 2022 |
|
Machine learning in newborn screening
|
Jun 03, 2022 |
|
Barth Syndrome (part 1): Disease overview and future treatments
|
May 20, 2022 |
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Barth Syndrome (part 2): Screening, modelling and more
|
May 20, 2022 |
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CDG or not CDG
|
May 16, 2022 |
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Shortcast: High penetrance and recurrent attacks in a family with hereditary coproporphyria
|
May 10, 2022 |
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Dentistry in Inherited Metabolic Disease
|
May 06, 2022 |
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Shortcast: Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort
|
May 02, 2022 |
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Shortcast: A serendipitous journey to a promoter variant in OTC
|
Apr 28, 2022 |
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NGLY1 deficiency & epilepsy
|
Apr 22, 2022 |
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Molybdenum Cofactor Deficiency
|
Apr 08, 2022 |
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Shortcast: Chondroitin sulfate disaccharide as a biomarker for MPS IVA
|
Apr 05, 2022 |
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Shortcast: A mild phenotype of mitochondrial trifunctional protein deficiency
|
Apr 01, 2022 |
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Treatment In Alkaptonuria
|
Mar 25, 2022 |
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Shortcast: Acute and early developmental outcomes of children with Duarte galactosemia
|
Mar 15, 2022 |
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Arginase Deficiency
|
Mar 11, 2022 |
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Shortcast: Two siblings with galactose mutarotase deficiency: Clinical differences
|
Mar 04, 2022 |
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AAV-gene therapy in galactosemia patient fibroblasts
|
Feb 25, 2022 |
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Unravelling the Secrets Of PMM2-CDG
|
Feb 11, 2022 |
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Transplant Outcomes in X-ALD
|
Jan 27, 2022 |
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Positive Negatives - genistein and resveratrol
|
Jan 14, 2022 |
|
100 Years Of IMD (in Austria)
|
Dec 31, 2021 |
|
Mitochondrial Disease Special Issue: Novel Therapies
|
Dec 17, 2021 |
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Organoids in IMD
|
Dec 03, 2021 |
|
MPS 1: Where are we now?
|
Nov 04, 2021 |
|
Easy as ABC...D3
|
Nov 04, 2021 |
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Assembling the treatment puzzle in Niemann Pick C
|
Oct 22, 2021 |
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McArdle disease - expanding the clinical phenotype
|
Oct 08, 2021 |
|
Gene Therapy in CBS Deficiency
|
Sep 27, 2021 |
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Cognitive and psychosocial outcomes in early-treated PKU
|
Sep 10, 2021 |
|
Disease Or Disorder: New Insights in Valine Degradation
|
Aug 06, 2021 |
|
Inborn Errors of the Malate Aspartate Shuttle
|
Jul 22, 2021 |
|
The Young Metabolists Society
|
Jul 16, 2021 |
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Why everyone needs to know about Urea Cycle Disorders
|
Jul 09, 2021 |
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Treatment In Lysosomal Storage Disorders
|
Jun 25, 2021 |
|
An International Classification of Inherited Metabolic Disorders
|
Jun 11, 2021 |
|
Emergency Protocol.net
|
May 28, 2021 |
|
N-glycome analysis in Congenital Disorders of Glycosylation
|
May 14, 2021 |
|
Galactosemia: An old diagnosis with new ideas
|
Apr 30, 2021 |
|
Diagnosis and management of methylmalonic acidaemia and propionic acidaemia
|
Apr 16, 2021 |
|
Transplantation in IMD
|
Apr 02, 2021 |
|
LSD Heterozygosity and Neurodegenerative Disease
|
Mar 19, 2021 |
|
Everything about Alkaptonuria
|
Mar 05, 2021 |
|
A narrative review of GSD III
|
Feb 19, 2021 |
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ATP6V1A related metabolic cutis laxa
|
Feb 05, 2021 |
|
All About ALD
|
Jan 22, 2021 |
|
Pyridoxine-dependent epilepsy
|
Jan 08, 2021 |
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Talking about Triheptanoin
|
Dec 18, 2020 |
|
It takes two to TANGO2
|
Dec 04, 2020 |
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Characterising late-onset MTHFR deficiency
|
Nov 20, 2020 |
|
Best Of JIMD Reports
|
Nov 06, 2020 |
|
MSD: The diagnosis needs the patients
|
Oct 23, 2020 |
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Taking a position on MNGIE
|
Oct 09, 2020 |
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Newborn screening: To WES or not to WES
|
Sep 25, 2020 |
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Ketogenic diets in inherited metabolic disease
|
Sep 11, 2020 |
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Towards Trials in Mitochondrial Disease
|
Aug 28, 2020 |
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PGM1-CDG with Professor Morava
|
Aug 14, 2020 |
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Simplifying Inherited Metabolic Disease
|
Jul 24, 2020 |
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IMD and Susceptibility to COVID19
|
Jul 10, 2020 |
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Mitochondria, medication and POLG
|
Jun 26, 2020 |
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PKU And Ageing
|
Jun 23, 2020 |